GA4GH presents vision, model for genomic and clinical data sharing

In today’s Science, the Global Alliance for Genomics and Health (GA4GH) calls for a federated data ecosystem for sharing genomic and clinical data. The authorship, which includes Heidi Rehm, Anthony Philippakis, Rachel Liao, and Angela Page of the Broad Institute of MIT and Harvard, as well as a diverse team of international leaders in academia, research, medicine, and industry, argues that a common framework of principles, protocols, and interoperable technical systems are necessary to enable responsible and effective data sharing.

GA4GH was established in 2013 to bring the community together to build the tools and establish the standards necessary to achieve that goal. Today, it counts more than 400 organizations and more than 700 individuals in its membership, which spans more than 70 countries.

“These stakeholders are working together across traditional boundaries to create the common framework that will allow us to make best use of the millions of genome sequences that currently sit in siloed databases around the globe,” says Peter Goodhand, GA4GH Executive Director and a member of the author group.

“We live in the information age and it is clear that we must share data to advance science and medicine. The GA4GH brings together many groups and programs around the world to share experiences, build standards and implement successful solutions at a global scale,” said Heidi Rehm, Medical Director of the Clinical Research Sequencing Platform at the Broad Institute and a principal investigator of ClinGen. Rehm also serves on the GA4GH Steering Committee and the leadership team of the GA4GH Clinical Working Group (CWG).

To date, GA4GH has created a toolkit of diverse products, including the Genomics API, which allows disparate technology services to exchange genotypic and phenotypic data, as well as the Framework for Responsible Sharing of Genomic and Health Related Data, which outlines the basic principles and core elements for responsible data sharing. GA4GH has also catalyzed the development of three data sharing projects which aim to illustrate the value of sharing data in real world contexts. These consist of (i) an open-ended approach to sharing data across the Internet (the Beacon Project), (ii) an international collaboration among breast cancer genetics experts (the BRCA Challenge), and (iii) a peer-to-peer network of clinicians (Matchmaker Exchange), which is co-lead by Rehm, Philippakis, and Kym Boycott of Children's Hospital of Eastern Ontario Research Institute.

“To create a learning medical system, we must be able to query data across multiple institutions,” said Philippakis, Chief Data Officer at the Broad Institute, who also serves on the CWG leadership team. “By enabling efforts such as Beacon and Matchmaker Exchange, GA4GH is playing a key role in enabling data sharing around the world.”

In addition to outlining successes, the paper notes a variety of remaining challenges to sharing data across national and institutional boundaries. For example, the membership is currently working on solutions to secure data access while maximizing the scope of information that can be shared, to create tools that are flexible enough to be readily implemented in different knowledge domains, and to establish sustainable funding models that support data curation, hosting, and computation.

"Millions of genome sequences are being generated around the globe, but to gain the full benefits from these data — to advance human health and to prevent and treat disease — laboratory and clinical investigators will need more effective means of access to data, regardless of where the data are stored,” said Professor Harold Varmus of Weill Cornell Medical College, former Director of the U.S. National Cancer Institute, and Chair of the GA4GH Scientific Advisory Board. “The only way to do that is for the global community to come together across traditional boundaries — be they national, institutional, or technical — to create a federated ecosystem that works for everyone. The GA4GH has begun to do that in the projects described in this new report.”

The Global Alliance for Genomics and Health is an international, non-profit alliance formed to accelerate the potential of genomic medicine to advance human health. Bringing together over 400 leading organizations working in healthcare, research, disease and patient advocacy, life science, and information technology, GA4GH Members are working together to create a common framework of tools, methods, and harmonized approaches and supporting demonstration projects to enable the responsible, voluntary, and secure sharing of genomic and clinical data.